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Sly Syndrome



Sly Syndrome Causes


Sly syndrome is caused by a defective gene positioned on chromosome 7.


Sly Syndrome Definition


Sly syndrome is a Mucopolysaccharidosis storage disorder due to deficiency of the enzyme beta-glucuronidase leading to accumulated deposits of dermatan, heparan, and chondroitin sulfates in most tissues and organs of the body including the central nervous system.


Sly Syndrome Symptoms and Signs


Symptoms of sly syndrome may include mental retardation, short stature marked by abnormally short trunk, intestinal abnormalities, abnormalities in the cornea of the eye, and anomalies involving the skeletal system. Other features of sly syndrome include cleft palate and prominent alveolar processes in the mouth and oral region, microcephaly and frontal prominence in the head, neck and face, flat nose and inverted nostrils. Underdeveloped ilium may be presented with shortness of tubular bones in the extremities. Kyphosis or scoliosis and other hook-like deformities may occur in the thoracic and lumbar vertebrate.


Sly Syndrome Treatment


Treatment of Sly Syndrome is usually symptomatic and supportive aimed at relieving the symptoms and preventing the occurrence of further complications.


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